Clinical trials: HNPCC Gene Mutation
BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation
Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis.
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation
- Trial name
- NCT04009148
- Testing
- CASCADE genetic screening
- Where
- United States
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Prostate Cancer
Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa).
- Trial name
- GENPROS (NCT02705846)
- Testing
- Observation of treatment outcomes via Questionnaire
- Where
- United Kingdom
- Volunteers
- 4,260 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Cancer, Colorectal Cancer
Comparison to Psychological, Medical and Emotional Influencing Communication and Achievement Factors to Oncogenetics Tests
The purpose of the study was to analyze the psychological and emotional determinants of domestic dissemination of information about genetic risk of cancer and to compare the level of diffusion syndromes in breast/ ovarian cancer…
- Conditions
- Cancer, Colorectal Cancer, Breast Cancer, Ovarian Cancer
- Trial name
- PSICOM (NCT03889171)
- Testing
- Behaviour
- Volunteers
- 200 people
- Sponsor
- University Hospital, Montpellier
Marfan Syndrome, Turner Syndrome
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of…
- Conditions
- Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Trial name
- GenTAC (NCT01322165)
- Where
- 7 sites in United States
- Volunteers
- 3,706 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Colorectal Cancer, APC Gene Mutation
Patogenic Mutation in 5 Genes
This is a pathogenic mutation profile of colorectal patients specifically in 5 genes, i.e. APC, TP53, PIK3CA, KRAS, and MLH1. Single nucleotide variants identified were synchronized with patients' characteristics.
- Conditions
- Colorectal Cancer, APC Gene Mutation, TP53 Gene Mutation, PIK3CA Gene Mutation
- Trial name
- NCT04976439
- Testing
- co-occuring mutation
- Where
- Indonesia
- Volunteers
- 22 people
- Sponsor
- Dr Cipto Mangunkusumo General Hospital
MMR Mutation, Small Bowel Adenoma
Small Bowel Capsule Endoscopy in Lynch Syndrome
The impact of small bowel (SB) capsule endoscopy (CE) on the screening (followed by diagnosis and treatment) of (pre)neoplastic lesions of the small bowel in Lynch syndrome (LS) patients is unknown.
- Conditions
- MMR Mutation, Small Bowel Adenoma, Small-bowel Adenocarcinoma, Lynch Syndrome
- Trial name
- iCARE4Lynch (NCT07472686)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Deleterious BARD1 Gene Mutation, Deleterious BRCA1 Gene Mutation
Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
This phase II trial studies how well surgery works in preventing ovarian cancer in patients with genetic mutations at risk of ovarian cancer.
- Conditions
- Deleterious BARD1 Gene Mutation, Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Deleterious BRIP1 Gene Mutation
- Trial name
- NCT02760849
- Testing
- Laboratory Biomarker Analysis, Oophorectomy, Quality-of-Life Assessment
- Where
- 9 sites in United States
- Volunteers
- 374 people
- Sponsor
- M.D. Anderson Cancer Center
Gastrectomy for Gastric Cancer, Gastrectomy
How Epigenetic Changes in hMLH1 Connect Lab Research With Diagnosis in Gastric Cancer
DNA methylation is one of the key mechanisms that are thought to underlie the association between aging and cancer. Several methylation-based measures of biological aging have been developed and have demonstrated an association…
- Conditions
- Gastrectomy for Gastric Cancer, Gastrectomy, MLH1 Gene Mutation, Gastric Cancer
- Trial name
- EMBRACE-hGC (NCT06982768)
- Where
- Italy
- Volunteers
- 245 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Metastatic Carcinoma in the Liver, MLH1 Gene Mutation
Durvalumab and Tremelimumab in Treating Patients With Microsatellite Stable Metastatic Colorectal Cancer to the Liver
This pilot clinical trial studies the side effects and how well durvalumab and tremelimumab work in treating patients with microsatellite stable colorectal cancer that has spread to the liver.
- Conditions
- Metastatic Carcinoma in the Liver, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation
- Trial name
- NCT03005002
- Testing
- Durvalumab, Laboratory Biomarker Analysis, Tremelimumab
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- City of Hope Medical Center
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Endometrial Cancer, Lynch Syndrome
Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome
Study Goal: This pilot study wants to find out if using a menstrual cup can be a good, non-invasive way to collect samples from the lining of the uterus (called the endometrium) to help screen for endometrial cancer.
- Conditions
- Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
- Trial name
- SCREEN-CUP (NCT07220239)
- Testing
- Menstrual cup use
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Jessica D. St. Laurent, MD
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Bladder Cancer, Colorectal Cancer
The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)
The goal of this study is to understand factors which may influence risk for colorectal and other cancers in families. These factors include genetic variability, in combination with diet and lifestyle.
- Conditions
- Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer
- Trial name
- NCT01447199
- Testing
- Health and Diet Questionnaire
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Breast Cancer Risk, Ovarian Cancer Risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and/or womb cancer.
- Conditions
- Breast Cancer Risk, Ovarian Cancer Risk, Cancer Gene Mutation
- Trial name
- PROTECT-C (NCT07498829)
- Testing
- Genetic testing for Cancer Susceptibility Genes (CSGs) (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6) and personalised breast and ovarian cancer risk
- Where
- United Kingdom
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Queen Mary University of London